Y1730C (p.Tyr1730Cys) variant of F5 (Coagulation factor V)
Y1730C (p.Tyr1730Cys) in F5 (Coagulation factor V) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Congenital factor V deficiency; not provided; Factor V deficiency. The available variant effect predictions contribute to a CATVariant prioritization score of 0.88 / 1. The record also includes population frequency data, published literature, and structural context.
Y1730C (p.Tyr1730Cys) variant details
- p.Tyr1730Cys
- rs118203907
- ClinGen CA251551
- ClinVar RCV000000683
- ClinVar RCV003595850
- Pathogenic/Likely pathogenic
- Congenital factor V deficiency; not provided; Factor V deficiency
- Missense
- Variant Prioritization Score for Impact Estimate 0.878
- REVEL 0.97
- MetaLR 0.98
- MetaSVM 1.03
- CADD 32.00
- PolyPhen-2 1.00
- SIFT 0.00
- ClinVar: Pathogenic/Likely pathogenic (Congenital factor V deficiency; not provided; Factor V deficienc)
- EBI: Pathogenic (in FA5D)
- UniProt: Pathogenic (in FA5D)
- Most common in the South Asian population (allele frequency 0.00044)
- Structural context available
- Cited in: Combinations of 4 mutations (FV R506Q, FV H1299R, FV Y1702C, PT 20210G/A) affecting the prothrombinase complex in a… (PMID 10942390)
- Cited in: Five novel mutations in the gene for human blood coagulation factor V associated with type I factor V deficiency. (PMID 11435304)